Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease

Mutations in nuclear genes required for the replication and maintenance of mitochondrial DNA cause progressive multisystemic neuromuscular disorders with overlapping phenotypes. Biallelic mutations in C10orf2, encoding the Twinkle mitochondrial DNA helicase, lead to infantile-onset cerebellar ataxia...

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Detalles Bibliográficos
Autores principales: Pierce, Sarah B., Gulsuner, Suleyman, Stapleton, Gail A., Walsh, Tom, Lee, Ming K., Mandell, Jessica B., Morales, Augusto, Klevit, Rachel E., King, Mary-Claire, Rogers, R. Curtis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2016
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990813/
https://www.ncbi.nlm.nih.gov/pubmed/27551684
http://dx.doi.org/10.1101/mcs.a001107

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